ClinVar Miner

List of variants studied for hyperinsulinism by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_000208.4(INSR):c.39G>C (p.Pro13=) rs771984795 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000208.4(INSR):c.14G>A (p.Gly5Asp) rs886054690 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) rs1484689392 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr) rs387906783
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile) rs1437510576
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_005327.7(HADH):c.*660_*661del
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504

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